Pramod K Mistry MD MB BS, FRCP, PhD
Professor of Medicine, Professor of Pediatrics, Professor of Cellular & Molecular Physiology, Direction of Metabolic Liver Disease and Lysosomal Disease Center, Yale School of Medicine
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800 Howard AveYale Physicians Bldg 4TH FLNew Haven, CT 06519
Phone+1 203-785-7352
Fax+1 203-785-7273
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Education & Training
Royal Free Hospital and University College London Medical SchoolClass of 1983
Certifications & Licensure
NJ State Medical License Current
NY State Medical License 1999 - 2026
CT State Medical License 2001 - 2025
American Board of Internal Medicine Internal Medicine
Publications & Presentations
PubMed
- ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.Rachel Rabin, Yoel Hirsch, Kevin T A Booth, Patricia L Hall, Naomi Yachelevich
American Journal of Medical Genetics. Part A. 2025-03-01 - Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individu...Pramod K Mistry, David Cassiman, Simon A Jones, Robin Lachmann, Elena Lukina
Hepatology Communications. 2025-01-01 - Eliglustat substrate reduction therapy in children with Gaucher disease type 1.Noor Ul Ain, Armaan Saith, Audrey Ruan, Ruhua Yang, Aaron Burton
Frontiers in Pediatrics. 2025-01-01
Press Mentions
Gaucher Disease: A Rare Disease Sheds Light on More Common ConditionsMarch 21st, 2025
Physicians’ Education Resource® to Present Six Satellite Symposia at Annual American Society of Hematology Meeting and ExpositionNovember 21st, 2018
Drug Improves Measures of Genetic Disease That Affects Liver, SpleenFebruary 17th, 2015
Grant Support
- POR In Inherited Metabolic Liver DiseasesNational Institute Of Diabetes And Digestive And Kidney Diseases2005–2009
- The Natural History And Treatment Of Gaucher DiseaseNational Center For Research Resources1999–2002
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